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Neuromuscular Disorders, ‎0960-8966

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  1. 259th ENMC international workshop: Anaesthesia and neuromuscular disorders 11 December, 2020 and 28–29 May, 2021

    Anaesthesia and Neuromuscular Disorders Working Group, 21 Nov 2021, (E-pub ahead of print) In: Neuromuscular Disorders.

    Research output: Contribution to journalArticlepeer-review

  2. HyperCKemia and rhabdomyolysis in the neuroleptic malignant and serotonin syndromes: A literature review

    Kruijt, N., van den Bersselaar, L. R., Wijma, J., Verbeeck, W., Coenen, M. J. H., Neville, J., Snoeck, M., Kamsteeg, E. J., Jungbluth, H., Kramers, C. & Voermans, N. C., Dec 2020, In: Neuromuscular Disorders. 30, 12, p. 949-958 10 p.

    Research output: Contribution to journalReview articlepeer-review

  3. Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms

    Banerji, C. R. S., Cammish, P., Evangelista, T., Zammit, P. S., Straub, V. & Marini-Bettolo, C., Apr 2020, In: Neuromuscular Disorders. 30, 4, p. 315-328 14 p.

    Research output: Contribution to journalArticlepeer-review

  4. Genetic neuropathies presenting with CIDP-like features in childhood

    Fernandez-Garcia, M. A., Stettner, G. M., Kinali, M., Clarke, A., Fallon, P., Knirsch, U., Wraige, E. & Jungbluth, H., 2020, (Accepted/In press) In: Neuromuscular Disorders.

    Research output: Contribution to journalReview articlepeer-review

  5. MYO-MRI diagnostic protocols in genetic myopathies

    MYO-MRI Working Group, 1 Nov 2019, In: Neuromuscular Disorders. 29, 11, p. 827-841 15 p.

    Research output: Contribution to journalReview articlepeer-review

  6. Recessive MYH7-related myopathy in two families

    Beecroft, S. J., van de Locht, M., de Winter, J. M., Ottenheijm, C. A., Sewry, C. A., Mohammed, S., Ryan, M. M., Woodcock, I. R., Sanders, L., Gooding, R., Davis, M. R., Oates, E. C., Laing, N. G., Ravenscroft, G., McLean, C. A. & Jungbluth, H., 1 Jun 2019, In: Neuromuscular Disorders. 29, 6, p. 456-467 12 p.

    Research output: Contribution to journalArticlepeer-review

  7. A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement

    Ardicli, D., Sarkozy, A., Zaharieva, I., Deshpande, C., Bodi, I., Siddiqui, A., U-King-Im, J. M., Selfe, A., Phadke, R., Jungbluth, H. & Muntoni, F., 1 Jun 2019, In: Neuromuscular Disorders. 29, 6, p. 448-455 8 p.

    Research output: Contribution to journalArticlepeer-review

  8. Functional impairments, fatigue and quality of life in RYR1-related myopathies: a questionnaire study

    van Ruitenbeek, E., Custers, J. A. E., Verhaak, C., Snoeck, M., Erasmus, C., Kamsteeg, E. J., Schouten, M. I., Coleman, C., Treves, S., Van Engelen, B. G., Jungbluth, H. & Voermans, N. C., 9 Nov 2018, (E-pub ahead of print) In: Neuromuscular Disorders.

    Research output: Contribution to journalArticlepeer-review

  9. ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects

    UK10K Consortium, Ullmann, U., D'Argenzio, L., Mathur, S., Whyte, T., Quinlivan, R., Longman, C., Farrugia, M. E., Manzur, A., Willis, T., Jungbluth, H., Pitt, M., Cirak, S., Feng, L., Stewart, W., Mein, R., Phadke, R., Sewry, C., Sarkozy, A. & Muntoni, F., Sep 2018, In: Neuromuscular Disorders. 28, 9, p. 741-749 9 p.

    Research output: Contribution to journalArticlepeer-review

  10. Parental mosaicism in RYR1-related Central Core Disease

    Marks, S., van Ruitenbeek, E., Fallon, P., Johns, P., Phadke, R., Mein, R., Mohammed, S. & Jungbluth, H., May 2018, In: Neuromuscular Disorders. 28, 5, p. 422-426 5 p.

    Research output: Contribution to journalArticlepeer-review

  11. A novel point mutation affecting asn76 of dystrophin protein leads to dystrophinopathy

    Koczok, K., Merő, G., Szabó, G. P., Madar, L., Gombos, É., Ajzner, É., Mótyán, J. A., Hortobágyi, T. & Balogh, I., 7 Dec 2017, (E-pub ahead of print) In: Neuromuscular Disorders.

    Research output: Contribution to journalArticlepeer-review

  12. Compound heterozygous RYR1 mutations in a preterm with arthrogryposis multiplex congenita and prenatal CNS bleeding

    Brackmann, F., Türk, M., Gratzki, N., Rompel, O., Jungbluth, H., Schröder, R. & Trollmann, R., 28 Sep 2017, (E-pub ahead of print) In: Neuromuscular Disorders.

    Research output: Contribution to journalArticlepeer-review

  13. P.369 - Multi-system disorder and severe recurrent rhabdomyolysis due to TANGO2 mutations in a 3 year-old child: 22nd International Congress of the World Muscle Society

    Ricci, F., Scalco, R., Mongini, T., Ferrero, G., Manole, A., Bertini, E., Desikan, M., Moroni, I., Di Rocco, M., Jungbluth, H., Quinlivan, R. & Houlden, H., 12 Sep 2017, (E-pub ahead of print) In: Neuromuscular Disorders. 27, Supplement 2, p. S207

    Research output: Contribution to journalMeeting abstractpeer-review

  14. P.480 - Establishment of an international database of Titin mutations and their phenotypes – a follow up: 22nd International Congress of the World Muscle Society

    Hackman, P., Savarese, M., Bönneman, C., Ferreiro, A., Beggs, A., Gautel, M., Davis, M., Evangelista, T., Glumac, J. N., Laporte, J., Smith, J., Richard, I., Granzier, H., Schneider, R., Jungbluth, H., Foye, S., Frase, A. R. & Udd, B., 12 Sep 2017, (E-pub ahead of print) In: Neuromuscular Disorders. 27, Supplement 2, p. S239-S240

    Research output: Contribution to journalMeeting abstractpeer-review

  15. Stabilised alpha helical peptides: A novel platform for enhanced antisense oligonucleotide delivery

    Eilers, W., Gadd, A., Foster, H., Cobb, A. & Foster, K., 9 Sep 2016, (E-pub ahead of print) In: Neuromuscular Disorders. 26, 2, p. S128 1 p., P.134.

    Research output: Contribution to journalArticlepeer-review

  16. CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: expanding the phenotypic spectrum of caveolinopathies

    Scalco, R. S., Gardiner, A. R., Pitceathly, R. D. S., Hilton-Jones, D., Schapira, A. H., Turner, C., Parton, M., Desikan, M., Barresi, R., Marsh, J., Manzur, A. Y., Childs, A-M., Feng, L., Murphy, E., Lamont, P. J., Ravenscroft, G., Wallefeld, W., Davis, M. R., Laing, N. G., Holton, J. L. & 7 others, Fialho, D., Bushby, K., Hanna, M. G., Phadke, R., Jungbluth, H., Houlden, H. & Quinlivan, R., 1 Aug 2016, In: Neuromuscular Disorders. 26, 8, p. 504-510 7 p.

    Research output: Contribution to journalArticlepeer-review

  17. 217th ENMC International Workshop: RYR1-related Myopathies, 29-31st January 2016, Naarden, The Netherlands

    Jungbluth, H., Dowling, J. J., Ferreiro, A. & Muntoni, F., 7 Jun 2016, (E-pub ahead of print) In: Neuromuscular Disorders.

    Research output: Contribution to journalConference paperpeer-review

  18. SIL1-related Marinesco-Sjoegren syndrome (MSS) with associated motor neuronopathy and bradykinetic movement disorder

    Byrne, S., Dlamini, N., Lumsden, D., Pitt, M., Zaharieva, I., Muntoni, F., King, A., Robert, L. & Jungbluth, H., 2015, (E-pub ahead of print) In: Neuromuscular Disorders. 4 p.

    Research output: Contribution to journalArticlepeer-review

  19. Approach to the diagnosis of congenital myopathies

    North, K. N., Wang, C. H., Clarke, N., Jungbluth, H., Vainzof, M., Dowling, J. J., Amburgey, K., Quijano-Roy, S., Beggs, A. H., Sewry, C., Laing, N. G., Boennemann, C. G. & Int Stand Care Comm Congenital Myo, Feb 2014, In: Neuromuscular Disorders. 24, 2, p. 97-116 20 p.

    Research output: Contribution to journalArticlepeer-review

  20. Outcome of children with acetylcholine receptor (AChR) antibody positive juvenile myasthenia gravis following thymectomy

    Heng, H. S., Lim, M., Absoud, M., Austin, C., Clarke, D., Wraige, E., Reid, C., Robb, S. A. & Jungbluth, H., Jan 2014, In: Neuromuscular Disorders. 24, 1, p. 25-30 6 p.

    Research output: Contribution to journalArticlepeer-review

  21. Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

    Dlamini, N., Voermans, N. C., Lillis, S., Stewart, K., Kamsteeg, E-J., Drost, G., Quinlivan, R., Snoeck, M., Norwood, F., Radunovic, A., Straub, V., Roberts, M., Vrancken, A. F. J. E., van der Pol, W. L., de Coo, R. I. F., Manzur, A. Y., Yau, S., Abbs, S., King, A., Lammens, M. & 7 others, Hopkins, P. M., Mohammed, S., Treves, S., Muntoni, F., Davis, M. R., van Engelen, B. & Jungbluth, H., Jul 2013, In: Neuromuscular Disorders. 23, 7, p. 540-548 9 p.

    Research output: Contribution to journalArticlepeer-review

  22. Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene

    Dlamini, N., Josifova, D., Paine, S. M. L., Wraige, E., Pitt, M., Murphy, A. J., King, A., Buk, S., Smith, F., Abbs, S., Sewry, C., Jacques, T. S. & Jungbluth, H., May 2013, In: Neuromuscular Disorders. 23, 5, p. 391-398 8 p.

    Research output: Contribution to journalArticlepeer-review

  23. Congenital myopathies - clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom

    Maggi, L., Scoto, M., Cirak, S., Robb, S. A., Klein, A., Lillis, S., Cullup, T., Feng, L., Manzur, A. Y., Sewry, C. A., Abbs, S., Jungbluth, H. & Muntoni, F., Mar 2013, In: Neuromuscular Disorders. 23, 3, p. 195-205 11 p.

    Research output: Contribution to journalArticlepeer-review

  24. Congenital myopathy with focal loss of cross-striations revisited

    Voermans, N. C., Jungbluth, H., Aronica, E., Monnier, N., Lunardi, J., Swash, M. & de Visser, M., Feb 2013, In: Neuromuscular Disorders. 23, 2, p. 160-164 5 p.

    Research output: Contribution to journalArticlepeer-review

  25. 198th ENMC International Workshop: 7th Workshop on Centronuclear (Myotubular) myopathies, 31st May - 2nd June 2013, Naarden, The Netherlands

    Jungbluth, H., Wallgren-Pettersson, C., Laporte, J. F. & on behalf of the Centronuclear (Myotubular) myopathy Consortium, 2013, (E-pub ahead of print) In: Neuromuscular Disorders. N/A, N/A, p. N/A 11 p., N/A.

    Research output: Contribution to journalArticlepeer-review

  26. Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement

    Cullup, T., Lamont, P. J., Cirak, S., Damian, M. S., Wallefield, W., Gooding, R., Tan, S. V., Sheehan, J., Muntoni, F., Abbs, S., Sewry, C. A., Dubowitz, V., Laing, N. G. & Jungbluth, H., Dec 2012, In: Neuromuscular Disorders. 22, 12, p. 1096-1104 9 p., N/A.

    Research output: Contribution to journalArticlepeer-review

  27. X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10

    Trump, N., Cullup, T., Verheij, J. B. G. M., Manzur, A., Muntoni, F., Abbs, S. & Jungbluth, H., 1 May 2012, In: Neuromuscular Disorders. 22, 5, p. 384-388

    Research output: Contribution to journalArticlepeer-review

  28. 182nd ENMC International Workshop: RYR1-related myopathies, 15-17th April 2011, Naarden, The Netherlands

    Jungbluth, H., Dowling, J. J., Ferreiro, A. & Muntoni, F., May 2012, In: Neuromuscular Disorders. 22, 5, p. 453-62 10 p.

    Research output: Contribution to journalArticlepeer-review

  29. Nebulin mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing

    Scoto, M., Cullup, T., Cirak, S., Yau, M., Feng, L., Manzur, A., Jungbluth, H., Abbs, S., Sewry, C. & Muntoni, F., 2012, In: Neuromuscular Disorders. 22, p. S31 - S31

    Research output: Contribution to journalMeeting abstract

  30. Role of Ret in satellite cell myogenesis and facioscapulohumeral muscular dystrophy

    Moyle, L., Knight, R., Knopp, P. & Zammit, P., 2012, In: Neuromuscular Disorders. 22, p. S15 - S15

    Research output: Contribution to journalMeeting abstract

  31. Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy

    Olivé, M., Odgerel, Z., Martínez, A., Poza, J. J., Bragado, F. G., Zabalza, R. J., Jericó, I., Gonzalez-Mera, L., Shatunov, A., Lee, H. S., Armstrong, J., Maraví, E., Arroyo, M. R., Pascual-Calvet, J., Navarro, C., Paradas, C., Huerta, M., Marquez, F., Rivas, E. G., Pou, A. & 2 others, Ferrer, I. & Goldfarb, L. G., Aug 2011, In: Neuromuscular Disorders. 21, 8, p. 533-42 10 p.

    Research output: Contribution to journalArticlepeer-review

  32. Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

    Robb, S. A., Sewry, C. A., Dowling, J. J., Feng, L., Cullup, T., Lillis, S., Abbs, S., Lees, M. M., Laporte, J., Manzur, A. Y., Knight, R. K., Mills, K. R., Pike, M. G., Kress, W., Beeson, D., Jungbluth, H., Pitt, M. C. & Muntoni, F., Jun 2011, In: Neuromuscular Disorders. 21, 6, p. 379 - 386 8 p.

    Research output: Contribution to journalArticlepeer-review

  33. King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene

    Dowling, J. J., Lillis, S., Amburgey, K., Zhou, H., Al-Sarraj, S., Buk, S. J. A., Wraige, E., Chow, G., Abbs, S., Leber, S., Lachlan, K., Baralle, D., Taylor, A., Sewry, C., Muntoni, F. & Jungbluth, H., Jun 2011, In: Neuromuscular Disorders. 21, 6, p. 420 - 427 8 p.

    Research output: Contribution to journalArticlepeer-review

  34. Variable phenotypes are associated with PMP22 missense mutations

    Russo, M., Laura, M., Polke, J. M., Davis, M. B., Blake, J., Brandner, S., Hughes, R. A. C., Houlden, H., Bennett, D. L. H., Lunn, M. P. T. & Reilly, M. M., Feb 2011, In: Neuromuscular Disorders. 21, 2, p. 106 - 114 9 p.

    Research output: Contribution to journalArticlepeer-review

  35. Infantile onset myofibrillar myopathy due to recessive CRYAB mutations

    Forrest, K. M. L., Al-Sarraj, S., Sewry, C., Buk, S., Tan, S. V., Pitt, M., Durward, A., McDougall, M., Irving, M., Hanna, M. G., Matthews, E., Sarkozyi, A., Hudson, J., Barresi, R., Bushby, K., Jungbluth, H. & Wraige, E., Jan 2011, In: Neuromuscular Disorders. 21, 1, p. 37 - 40 4 p.

    Research output: Contribution to journalArticlepeer-review

  36. Neuregulin-1 is required for axoglial signalling following peripheral nerve injury to ensure normal re-myelination and functional recovery

    Fricker, F. R., Brelstaff, J., Zhu, N., Garratt, A. N., Birchmeier, C. & Bennett, D. L. H., 2011, In: Neuromuscular Disorders. 21, p. S3 - S3

    Research output: Contribution to journalMeeting abstract

  37. The host muscle environment has got a profound effect on satellite cell function

    Boldrin, L., Zammit, P. S., Muntoni, F. & Morgan, J. E., 2011, In: Neuromuscular Disorders. 21, p. S12 - S12

    Research output: Contribution to journalMeeting abstract

  38. The pathological spectrum associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

    Sewry, C., Jungbluth, H., Feng, L. & Muntoni, F., 2011, In: Neuromuscular Disorders. 21, p. S26 - S26

    Research output: Contribution to journalMeeting abstract

  39. The spectrum of genetic defects responsible for congenital fibre type disproportion

    Feng, L., Phadke, R., Jungbluth, H., Lillis, S., Cullup, T., Chambers, D., Abbs, S., Muntoni, F. & Sewry, C., 2011, In: Neuromuscular Disorders. 21, p. S24 - S24

    Research output: Contribution to journalMeeting abstract

  40. Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia

    Munot, P., Lashley, D., Jungbluth, H., Feng, L., Pitt, M., Robb, S. A., Palace, J., Jayawant, S., Kennet, R., Beeson, D., Cullup, T., Abbs, S., Laing, N., Sewry, C. & Muntoni, F., Dec 2010, In: Neuromuscular Disorders. 20, 12, p. 796 - 800 5 p.

    Research output: Contribution to journalArticlepeer-review

  41. Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin

    Forrest, K., Mellerio, J. E., Robb, S., Dopping-Hepenstal, P. J. C., McGrath, J. A., Liu, L., Buk, S. J. A., Al-Sarraj, S., Wraige, E. & Jungbluth, H., Nov 2010, In: Neuromuscular Disorders. 20, 11, p. 709 - 711 3 p.

    Research output: Contribution to journalArticlepeer-review

  42. The pathogenic m.3243A > T mitochondrial DNA mutation is associated with a variable neurological phenotype

    Alston, C. L., Bender, A., Hargreaves, I. P., Mundy, H., Deshpande, C., Klopstock, T., McFarland, R., Horvath, R. & Taylor, R. W., Jun 2010, In: Neuromuscular Disorders. 20, 6, p. 403-406 4 p.

    Research output: Contribution to journalArticlepeer-review

  43. Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations

    Geranmayeh, F., Clement, E., Feng, L. H., Sewry, C., Pagan, J., Mein, R., Abbs, S., Brueton, L., Childs, A-M., Jungbluth, H., De Goede, C. G., Lynch, B., Lin, J-P., Chow, G., de Sousa, C., O'Mahony, O., Majumdar, A., Straub, V., Bushby, K. & Muntoni, F., Apr 2010, In: Neuromuscular Disorders. 20, 4, p. 241-250 10 p.

    Research output: Contribution to journalArticlepeer-review

  44. Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene

    Zhou, H., Lillis, S., Loy, R. E., Ghassemi, F., Rose, M. R., Norwood, F., Mills, K., Al-Sarraj, S., Lane, R. J. M., Feng, L., Matthews, E., Sewry, C. A., Abbs, S., Buk, S., Hanna, M., Treves, S., Dirksen, R. T., Meissner, G., Muntoni, F. & Jungbluth, H., Mar 2010, In: Neuromuscular Disorders. 20, 3, p. 166 - 173 8 p.

    Research output: Contribution to journalArticlepeer-review

  45. A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy

    Alston, C. L., Morak, M., Reid, C., Hargreaves, I. P., Pope, S. A. S., Land, J. M., Heales, S. J., Horvath, R., Mundy, H. & Taylor, R. W., Feb 2010, In: Neuromuscular Disorders. 20, 2, p. 131-135 5 p.

    Research output: Contribution to journalArticlepeer-review

  46. Ca2+ sensitizers: An emerging class of agents for counterbalancing weakness in skeletal muscle diseases?

    Ochala, J., Feb 2010, In: Neuromuscular Disorders. 20, 2, p. 98-101 4 p.

    Research output: Contribution to journalArticlepeer-review

  47. Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation

    Jungbluth, H., Cullup, T., Lillis, S., Zhou, H., Abbs, S., Sewry, C. & Muntoni, F., Jan 2010, In: Neuromuscular Disorders. 20, 1, p. 49 - 52 4 p.

    Research output: Contribution to journalArticlepeer-review

  48. Cochrane reviews: the best evidence for treating neuromuscular diseases?

    Quinlivan, R., Hughes, R. A. C. & Rose, M., 2010, In: Neuromuscular Disorders. 20, p. S30 - S30

    Research output: Contribution to journalMeeting abstract

  49. Mice lacking lamin A/C have disorganised myotendinous junctions and perturbed satellite cell function

    Gnocchi, V., Scharner, J., Sun, Y. -B., Ellis, J. & Zammit, P., 2010, In: Neuromuscular Disorders. 20, p. S15 - S15

    Research output: Contribution to journalMeeting abstract

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